A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis
Congenit Anom (Kyoto)
.
2023 Jul;63(4):127-128.
doi: 10.1111/cga.12518.
Epub 2023 May 1.
Authors
Hamadia Jan
1
,
Naveed Wasif
2
3
,
Syed Kamran-Ul-Hassan Naqvi
4
,
Imran Ullah
1
,
Wasim Ahmad
1
Affiliations
1
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
2
Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
3
Institute of Human Genetics, University Hospital Schleswig-Holstein, Kiel, Germany.
4
Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan.
PMID:
37128664
DOI:
10.1111/cga.12518
No abstract available
MeSH terms
Homozygote
Humans
Ichthyosis, Lamellar*
Mutation